Toward co‐production of research in 22q11.2 deletion syndrome: Research needs from the caregiver's perspective

Abstract

The 22q11.2 deletion syndrome (22qDS; intractable disease #203 in Japan) is the most common microdeletion syndrome, with an estimated prevalence of 1:2000–1:6000 live births.1 Individuals with 22qDS experience various disorders, including congenital heart disease, cleft palate, and intellectual disability. Since 22qDS has been reported as one of the greatest risk factors for schizophrenia (odds ratio: 67.7),2 psychiatrists and researchers have also focused on 22qDS.3 However, the psychosocial burden from multimorbidity and the research needs of individuals with 22qDS or their caregivers have been under-recognized. Harmonizing the perspectives of patients, caregivers, clinicians, and researchers is desirable for better research.4, 5 As a first step of patient and public involvement and co-production, we conducted a questionnaire survey to identify the unmet research needs of caregivers of individuals with 22qDS. We conducted the online survey6 from March to October 2019. The survey used a questionnaire assessing the caregivers’ perceived challenges associated with multimorbidity and unmet needs for medical, welfare, and educational services, and comprised a required Part A and optional Part B. For this study, we extracted data on age and sex of individuals with 22qDS, their caregivers’ gender, research needs, and additional comments. Caregivers were instructed to ‘select all categories that they feel are of great importance in conducting research on 22qDS.’ The eight categories, described in Figure 1, had been predefined by experts and caregivers. The research needs of each respondent were aggregated into subgroups. A set of needs of each respondent was normalized as a vector and visualized using the principal component analysis (PCA) with small jittering.7 We excluded respondents that answered ‘all’ in the PCA. matlab (R2019a; MathWorks, Natick, MA, USA) was used for statistical analysis and PCA. Among the 125 participants (Part A), 98 respondents (89 women, 90.8%) caring for individuals with 22qDS (50 females with 22qDS, 51.0%) answered Part B. Figure 1a shows the histogram of the ages of individuals with 22qDS. Figure 1b shows a bar chart of the research needs. Most respondents (81.6%) considered that the research of #8 (cooperation of medicine, welfare, and education) was important, followed by #6 (prevention and treatment of psychiatric problems; 77.6% respondents in total and 91.7% in the ‘adult’ group). However, #4 (speech therapy) tended to be higher in respondents caring for younger individuals. Surprisingly, caregivers of preschool children tended to have low research needs for #5 (developmental support; 72.4%). This requires further research to clarify whether developmental support has already been met. There were no statistically significant differences in the individuals’ age or sex. Using 84 out of 98 responses (85.7%), PCA (shown in Figure 1c,d) suggested four axes of the research needs: [1. Pathology], [2. Cardiac], [3. ENT and 4. ST], and [5. Development, 6. Psychiatry, 7. Employment, and 8. Cooperation] as well as diverse research needs. Combined with the large numbers of the respondents considering categories #5–8 as important, the PCA suggested new independent unmet research needs for psychosocial research. To meet these needs, constructing a patient-centered care system for multimorbidity that flexibly responds to clinical needs according to each patient's illness trajectory is required.8 Currently in Japan, individuals with an intractable disease meeting certain requirements have been subsidized. In 22qDS, the requirements are composed of the severity of heart disease. However, different challenges potentially faced by individuals with 22qDS with or without these disorders exist.9 This study suggests that there is great need for psychosocial research in addition to the existing focus on physical medicine research, and that the standard for subsidization should be reconsidered. Although the research needs of caregivers were not significantly different when stratified by the age or sex of individuals with 22qDS, these may be influenced by various symptoms or challenges that they experienced in our preliminary data. More quantitative studies, such as ranked choices and those linked to the individual's clinical symptoms, would clarify specific research needs. Several additional comments dealt with genetic explanation and counseling for siblings and stigma around 22qDS. As more focus has recently been placed on burdens on siblings,10 further qualitative and quantitative studies of siblings are necessary. A respondent stated, ‘Hope that people in the society will know the characteristics of people with 22qDS. I hope, from infants to adults, seamless support and “Ibasyo,” a psychological homeplace.’ In summary, based on our survey, developmental and psychosocial aspects and the cooperation between service domains, including medicine, welfare, and education, are the most desired among the diverse research needs of caregivers of individuals with 22qDS. This study offers a significant implication for democratizing future research. Psychosocial research to construct a patient-centered care system for multimorbidity is required to flexibly respond to clinical needs. We sincerely thank participants for responding to the questionnaire, and executive members of 22 HEART CLUB and the Association for the Protection of Children with Heart Disease for announcement of the questionnaire to their members. We also thank health-care and research professionals for the announcement. We thank Drs Shuntaro Ando, Masato Fukuda, Kayo Ichihashi, Yuki Miyamoto, and Sosei Yamaguchi for the helpful comments to improve the questionnaire as well as Mr Yuri Suzuki for his assistance in editing this manuscript. This study was approved by the Ethical Committee of Graduate School and Faculty of Medicine, The University of Tokyo. This study was supported by AMED under Grant Number 20ek0109369 and Takeda Science Foundation (K.K.) and Kanae Foundation for the Promotion of Medical Science (H.T.). This study was also supported (in part) by JSPS KAKENHI Grant Numbers JP16H06395, JP16H06399, and JP16K21720 (K.K.), and Grant-in-Aid for JSPS Fellows Number 20J11742 (H.T.). K.K. reports grants and personal fees from Astellas, Takeda, Dainippon-Sumitomo, and Otsuka, grants from Lilly, MSD, Novartis, Tanabe-Mitsubishi, Eisai, Shionogi, and Ono Pharma, and personal fees from Fuji-Film-Wako, Yoshitomi, Kyowa, Janssen, and Meiji Seika Pharma, outside the submitted work. The other authors have no conflicts of interest to disclose.

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