藤江 里衣子

Abstract Newborn screening (NBS) for Fabry disease (FD) is an effective way to identify individuals with FD before the onset of symptoms, enabling early therapeutic treatment. The classic form of FD typically begins in early childhood or later, but the late‐onset form often develops in adulthood. However, FD‐NBS identifies positive cases regardless of the expected timing of symptom onset. Consequently, concerns have been raised about prolonged uncertainty, medicalization, and caregivers' hypervigilance throughout the asymptomatic period. These issues are particularly salient for mothers, who are often heterozygous carriers and primary caregivers. Despite the growing implementation of FD‐NBS in some countries, the perspectives of parents, especially mothers, have not been adequately explored. This study explores the experiences, emotions, and needs of five mothers whose children were diagnosed with FD through NBS, aiming to uncover the psychological impact and support required during the asymptomatic period. Semistructured interviews were conducted and analyzed using the KJ (Kawakita Jiro) method, a kind of bottom‐up qualitative approach. The findings revealed that mothers experienced a psychological burden related to monitoring for disease onset. However, this burden was reduced by several factors, including an understanding of the timing of onset, the attending physician's opinions, the passage of time, and personalized coping strategies. Needs were identified for support in understanding the disease, as well as for spaces that facilitate empathy and information exchange. Opinions regarding FD‐NBS were generally positive; however, negative feelings were also expressed, including views that they did not have to discover their child's FD through NBS. These findings suggest that understanding the experiences of mothers of asymptomatic children and providing support, such as genetic counseling and peer support, could enhance the effectiveness of FD‐NBS.

Abstract Background Weight-loss approaches involving mindfulness have been reported to reduce overeating behavior. We conducted a preliminary evaluation of the feasibility and effectiveness of a mindfulness mobile application (MMA) combined with a comprehensive lifestyle intervention (CLI) focused on weight loss and eating behaviors for people with metabolic syndrome based on post-intervention follow-up data. Method Participants were randomly assigned (1:1) to a CLI group or a CLI + MMA group. Participants received weekly CLI for 13 weeks, followed by telephone counseling for 13 weeks. The CLI + MMA group also had access to the MMA. Feasibility was assessed by the number of people who refused to participate, rate of adherence to the MMA, follow-up rate, and participant satisfaction. The preliminary endpoint was weight change (at 26 weeks). Participants completed the Dutch Eating Behavior Questionnaire (DEBQ). A mixed linear model was used for efficacy analysis. Results Eight of the 40 participants declined to participate. The MMA was used 4.4 ± 1.7 days per week, but the rate of adherence declined over time. The follow-up rate was 100%, and there was no difference in participant satisfaction between the groups. There was no significant group-by-time interaction for weight loss (p = 0.924), but there was a significant interaction for the DEBQ restrained eating score (p = 0.033). Conclusions This study found that CLI plus MMA was highly feasible and moderately acceptable. There were no significant differences in weight loss between the groups, but the CLI + MMA group showed an increase in restrained eating. Further large-scale studies are needed. Trial Registration Japanese University Hospital Medical Information Network (UMIN-ICDR). Clinical Trial identifier number UMIN000042626.